Publications by authors named "Saumya S Jamuar"

19Publications

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

From Big Data to Precision Medicine.

Front Med (Lausanne) 2019 1;6:34. Epub 2019 Mar 1.

Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.

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https://www.frontiersin.org/article/10.3389/fmed.2019.00034/
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http://dx.doi.org/10.3389/fmed.2019.00034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405506PMC
March 2019

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.

J Pediatr 2018 05 3;196:270-274.e1. Epub 2018 Feb 3.

Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1016/j.jpeds.2017.12.046DOI Listing
May 2018

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Hum Genomics 2015 Dec 14;9:33. Epub 2015 Dec 14.

KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.

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http://dx.doi.org/10.1186/s40246-015-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678573PMC
December 2015

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

Neuron 2015 Dec;88(5):910-917

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2015.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672379PMC
December 2015

DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.

Clin Dysmorphol 2016 Jan;25(1):37-40

aDepartment of Paediatrics bKK Research Centre cDNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital dPaediatric Academic Clinical Programme, Singhealth Duke-NUS Graduate School of Medicine, Singapore, Singapore.

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http://pdfs.journals.lww.com/clindysmorphol/2016/01000/DICER
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000105DOI Listing
January 2016

Genomic variants and variations in malformations of cortical development.

Pediatr Clin North Am 2015 Jun 1;62(3):571-85. Epub 2015 Apr 1.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2015.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449454PMC
June 2015

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 11;371(21):2038

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http://dx.doi.org/10.1056/NEJMc1411784DOI Listing
November 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia.

Ther Adv Hematol 2012 Oct;3(5):299-307

Division of Genetics, 300 Longwood Avenue, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/2040620712450252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627318PMC
October 2012

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Mol Genet Metab 2012 Aug 30;106(4):488-90. Epub 2012 May 30.

Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.018DOI Listing
August 2012